Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883154C= , CM000663.2:g.212883154C= | GRCh38 |
| NC_000001.10:g.213056496C= , CM000663.1:g.213056496C= | GRCh37 |
| NC_000001.9:g.211123119C= | NCBI36 |
| NG_028131.1:g.29900C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1025-217C= MANE Select | ENSP00000355938.4:n.1025-217C= | |
| ENST00000366971.8:c.1025-217C= | ENSP00000355938.4:n.1025-217C= | |
| ENST00000419102.1:c.421-217C= | ||
| ENST00000474693.1:n.250-217C= | ||
| NM_014053.3:c.1025-217C= | NP_054772.1:n.1025-217C= | |
| XM_011509446.1:c.1025-217C= | XP_011507748.1:n.1025-217C= | |
| XR_247024.1:n.1199-217C= | ||
| XR_426771.1:n.1326-217C= | ||
| XM_011509446.3:c.1025-217C= | XP_011507748.1:n.1025-217C= | |
| XR_247024.3:n.1199-217C= | ||
| NM_014053.4:c.1025-217C= MANE Select | NP_054772.1:n.1025-217C= |